Canonical Allele Identifier: CA6289046
Gene: APOA5 HGNC NCBI

Linked Data

dbSNP Id: rs760869393
ExAC: 11:116661360 GGCGTATGGGTGGAAGAGCTCTTTGAAGCGGCCGGTGTGGT / G
gnomAD v2: 11-116661360-GGCGTATGGGTGGAAGAGCTCTTTGAAGCGGCCGGTGTGGT-G
gnomAD v3: 11-116790644-GGCGTATGGGTGGAAGAGCTCTTTGAAGCGGCCGGTGTGGT-G
gnomAD v4: 11-116790644-GGCGTATGGGTGGAAGAGCTCTTTGAAGCGGCCGGTGTGGT-G
MyVariant Identifiers: chr11:g.116661361_116661400del (hg19) chr11:g.116790645_116790684del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790647_116790686del , CM000673.2:g.116790647_116790686del GRCh38
NC_000011.9:g.116661363_116661402del , CM000673.1:g.116661363_116661402del GRCh37
NC_000011.8:g.116166573_116166612del NCBI36
NG_015894.1:g.6737_6776del
NG_015894.2:g.6737_6776del

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.545_584del MANE Select ENSP00000227665.4:p.His182ProfsTer5
ENST00000433069.2:c.545_584del ENSP00000399701.2:p.His182ProfsTer5
ENST00000673688.1:c.629_668del ENSP00000501141.1:p.His210ProfsTer5
ENST00000227665.8:c.545_584del ENSP00000227665.4:p.His182ProfsTer5
ENST00000542499.5:c.545_584del ENSP00000445002.1:p.His182ProfsTer5
NM_001166598.1:c.545_584del NP_001160070.1:p.His182ProfsTer5
NM_052968.4:c.545_584del NP_443200.2:p.His182ProfsTer5
NM_001166598.2:c.545_584del NP_001160070.1:p.His182ProfsTer5
NM_001371904.1:c.545_584del MANE Select NP_001358833.1:p.His182ProfsTer5
NM_052968.5:c.545_584del NP_443200.2:p.His182ProfsTer5
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